目的通过对孕妇羊水进行染色体核型、荧光原位杂交（fluorescence in situ hybridization,FISH）分析，探讨两者联合检测在诊断罗伯逊易位型21-三体中的应用价值。方法为2010年1月至2011年12月进行产前诊断的孕妇抽取羊水，经体外细胞...目的通过对孕妇羊水进行染色体核型、荧光原位杂交（fluorescence in situ hybridization,FISH）分析，探讨两者联合检测在诊断罗伯逊易位型21-三体中的应用价值。方法为2010年1月至2011年12月进行产前诊断的孕妇抽取羊水，经体外细胞培养后进行G显带染色体核型分析。对发现的5例罗伯逊易位采用FIsH检测间期细胞13、18、21及x／Y的染色体数目，并分析孕妇及其丈夫外周血染色体核型。结果两个胎儿父母外周血染色体核型正常，其中一个胎儿羊水染色体核型为46，XY，rob（21；21）（q10；q10），FISH检测提示其为21-二体，另一个胎儿核型为46，XY，rob（14；21）（q10；q10），FISH检测证实其为21-三体。另外3个胎儿母亲外周血染色体核型分别为45，XX，rob（14；21）（q10；q10）、45，XX，rob（15；21）（q10；q10）、45，XX，rob（21；22）（q10；q10），其羊水染色体核型分别为46，XX，rob（14；21）（q10；q10）、46，XY，rob（15；21）（q10；q10）、46，XX，rob（21；22）（q10；q10）。FISH检测证实其均为21-三体。结论染色体核型分析结合FISH检测有助于明确罗伯逊易位型21-三体的诊断，但FISH检测同源罗伯逊易位型21-三体征有一定局限性。展开更多
Comparing to its sister-family （Rhinolophidae）, Hipposideridae was less studied by cytogenetic approaches. Only a few high-resolution G-banded karyotypes have been reported so far, and most of the conclusions on the...Comparing to its sister-family （Rhinolophidae）, Hipposideridae was less studied by cytogenetic approaches. Only a few high-resolution G-banded karyotypes have been reported so far, and most of the conclusions on the karyotypic evolution in Hipposideridae were based on conventional Giemsa-staining. In this study, we applied comparative chromosome painting, a method of choice for genome-wide comparison at the molecular level, and G- and C-banding to establish comparative map between five hipposiderid species from China, using a whole set of chromosome-specific painting probes from one of them （Aselliscus stoliczkanus）. G-band and C-band comparisons between homologous segments defined by chromosome painting revealed that Robertsonian translocations, paracentric inversions and heterochromatin addition could be the main mechanism of chromosome evolution in Hipposideridae. Comparative analysis of the conserved chromosomal segments among five hipposiderid species and outgroup species suggests that bi-armed chromosomes should be included into the ancestral karyotype of Hipposideridae, which was previously believed to be exclusively composed of acrocentric chromosomes.展开更多
文摘目的通过对孕妇羊水进行染色体核型、荧光原位杂交（fluorescence in situ hybridization,FISH）分析，探讨两者联合检测在诊断罗伯逊易位型21-三体中的应用价值。方法为2010年1月至2011年12月进行产前诊断的孕妇抽取羊水，经体外细胞培养后进行G显带染色体核型分析。对发现的5例罗伯逊易位采用FIsH检测间期细胞13、18、21及x／Y的染色体数目，并分析孕妇及其丈夫外周血染色体核型。结果两个胎儿父母外周血染色体核型正常，其中一个胎儿羊水染色体核型为46，XY，rob（21；21）（q10；q10），FISH检测提示其为21-二体，另一个胎儿核型为46，XY，rob（14；21）（q10；q10），FISH检测证实其为21-三体。另外3个胎儿母亲外周血染色体核型分别为45，XX，rob（14；21）（q10；q10）、45，XX，rob（15；21）（q10；q10）、45，XX，rob（21；22）（q10；q10），其羊水染色体核型分别为46，XX，rob（14；21）（q10；q10）、46，XY，rob（15；21）（q10；q10）、46，XX，rob（21；22）（q10；q10）。FISH检测证实其均为21-三体。结论染色体核型分析结合FISH检测有助于明确罗伯逊易位型21-三体的诊断，但FISH检测同源罗伯逊易位型21-三体征有一定局限性。
基金supported by grants from the National Natural Science Foundation of China(30770293)the Ministry of Science and Technology of China(2005DKA21502)
文摘Comparing to its sister-family （Rhinolophidae）, Hipposideridae was less studied by cytogenetic approaches. Only a few high-resolution G-banded karyotypes have been reported so far, and most of the conclusions on the karyotypic evolution in Hipposideridae were based on conventional Giemsa-staining. In this study, we applied comparative chromosome painting, a method of choice for genome-wide comparison at the molecular level, and G- and C-banding to establish comparative map between five hipposiderid species from China, using a whole set of chromosome-specific painting probes from one of them （Aselliscus stoliczkanus）. G-band and C-band comparisons between homologous segments defined by chromosome painting revealed that Robertsonian translocations, paracentric inversions and heterochromatin addition could be the main mechanism of chromosome evolution in Hipposideridae. Comparative analysis of the conserved chromosomal segments among five hipposiderid species and outgroup species suggests that bi-armed chromosomes should be included into the ancestral karyotype of Hipposideridae, which was previously believed to be exclusively composed of acrocentric chromosomes.
